Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

Neil Risch, Deborah de Leon, Laurie Ozelius, Patricia Kramer, Laura Almasy, Burton Singer, Stanley Fahn, Xandra Breakefield, Susan Bressman

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    Abstract

    We have examined data on six closely linked microsatellite loci on chromosome 9q34 from 59 Ashkenazi Jewish families with idiopathic torsion dystonia (ITD). Our data show that the vast majority (>90%) of early–onset ITD cases in the Ashkenazi population are due to a single founder mutation, which we estimate first appeared approximately 350 years ago. We also show that carriers preferentially originate from the northern part of the historic Jewish Pale of settlement (Lithuania and Byelorussia). The recent origin of this dominant mutation and its current high frequency (between 1/6, 000 and 1/2, 000) suggest that the Ashkenazi population descends from a limited group of founders, and emphasize the importance of genetic drift in determining disease allele frequencies in this population.

    Original languageEnglish (US)
    Pages (from-to)152-159
    Number of pages8
    JournalNature Genetics
    Volume9
    Issue number2
    DOIs
    StatePublished - Feb 1995

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    ASJC Scopus subject areas

    • Genetics

    Cite this

    Risch, N., de Leon, D., Ozelius, L., Kramer, P., Almasy, L., Singer, B., Fahn, S., Breakefield, X., & Bressman, S. (1995). Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genetics, 9(2), 152-159. https://doi.org/10.1038/ng0295-152